| 15q11q13 microduplication syndrome | 1 | Aug 29, 2022 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | May 3, 2023 |
| 3-methylglutaconic aciduria, type VIIB | 2 | May 4, 2022 |
| 3p- syndrome | 1 | Aug 29, 2022 |
| 46,XY sex reversal 3 | 1 | May 22, 2024 |
| ABCA4-related retinopathy | 3 | Jan 27, 2023 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Jan 27, 2023 |
| ALG1-congenital disorder of glycosylation | 2 | Oct 3, 2019 |
| ALG3-congenital disorder of glycosylation | 1 | May 3, 2023 |
| Aarskog syndrome | 1 | Mar 13, 2024 |
| Abducens nerve palsy | 1 | Mar 13, 2024 |
| Abnormal retinal morphology | 1 | Mar 10, 2020 |
| Abnormality of the outer ear | 1 | Mar 6, 2019 |
| Acatalasia | 1 | Mar 10, 2020 |
| Achromatopsia 2 | 1 | Mar 10, 2020 |
| Acquired partial lipodystrophy | 1 | Mar 10, 2020 |
| Actin accumulation myopathy | 3 | Jan 27, 2023 |
| Adrenoleukodystrophy | 1 | Oct 3, 2019 |
| Adult polyglucosan body disease | 6 | Feb 11, 2022 |
| Agenesis of the corpus callosum with peripheral neuropathy | 3 | Jan 27, 2023 |
| Aicardi-Goutieres syndrome 1 | 2 | May 3, 2023 |
| Aicardi-Goutieres syndrome 2 | 1 | Nov 21, 2018 |
| Aicardi-Goutieres syndrome 5 | 1 | Oct 3, 2019 |
| Aicardi-Goutieres syndrome 7 | 1 | Jun 27, 2018 |
| Al Kaissi syndrome | 1 | Oct 3, 2019 |
| Allan-Herndon-Dudley syndrome | 1 | Oct 3, 2019 |
| Alport syndrome | 1 | May 3, 2023 |
| Alstrom syndrome | 4 | May 4, 2022 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Jan 27, 2023 |
| Amyotrophic lateral sclerosis type 2, juvenile | 1 | May 3, 2023 |
| Amyotrophic lateral sclerosis type 22 | 2 | Mar 13, 2024 |
| Androgen resistance syndrome | 1 | Mar 10, 2020 |
| Anemia, congenital dyserythropoietic, type 1a | 1 | May 4, 2022 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Mar 10, 2020 |
| Angelman syndrome | 3 | Sep 11, 2023 |
| Argininosuccinate lyase deficiency | 1 | Mar 10, 2020 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Jan 27, 2023 |
| Arterial calcification, generalized, of infancy, 1 | 1 | Mar 10, 2020 |
| Arthrogryposis multiplex congenita 5 | 1 | May 3, 2023 |
| Arthrogryposis, distal, type 1A | 1 | Dec 21, 2023 |
| Arthrogryposis, distal, with impaired proprioception and touch | 1 | Jan 27, 2023 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Mar 13, 2024 |
| Arts syndrome | 1 | Nov 21, 2018 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Jan 27, 2023 |
| Ataxia-pancytopenia syndrome | 1 | Oct 3, 2019 |
| Ataxia-telangiectasia syndrome | 2 | Sep 11, 2023 |
| Au-Kline syndrome | 3 | Mar 13, 2024 |
| Auriculocondylar syndrome 2 | 1 | Sep 26, 2018 |
| Autism | 3 | Dec 21, 2023 |
| Autism, susceptibility to, X-linked 2 | 1 | May 3, 2023 |
| Autosomal dominant Parkinson disease 8 | 1 | Mar 10, 2020 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Sep 26, 2018 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 | Mar 10, 2020 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Mar 10, 2020 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Nov 9, 2023 |
| Autosomal recessive cerebellar ataxia | 1 | May 3, 2023 |
| Autosomal recessive congenital ichthyosis 1 | 1 | Mar 10, 2020 |
| Autosomal recessive distal spinal muscular atrophy 1 | 3 | May 3, 2023 |
| Autosomal recessive juvenile Parkinson disease 2 | 2 | Mar 10, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy | 5 | Feb 22, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 30 | Apr 11, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 26 | Sep 11, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 5 | Sep 11, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 6 | Sep 11, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 | Oct 3, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Oct 3, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Oct 3, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 20 | May 3, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 8 | Oct 3, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 3 | May 3, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Oct 3, 2019 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 | Oct 3, 2019 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | Mar 10, 2020 |
| Autosomal recessive osteopetrosis 1 | 1 | Jan 27, 2023 |
| Autosomal recessive polycystic kidney disease | 5 | May 3, 2023 |
| Autosomal recessive primary microcephaly | 1 | May 3, 2023 |
| Autosomal recessive spinocerebellar ataxia 14 | 1 | Jan 27, 2023 |
| Autosomal recessive spinocerebellar ataxia 17 | 1 | Oct 3, 2019 |
| Autosomal recessive spinocerebellar ataxia 18 | 1 | Sep 11, 2023 |
| Autosomal recessive spinocerebellar ataxia 20 | 4 | May 3, 2023 |
| Autosomal recessive spinocerebellar ataxia 7 | 1 | Jan 27, 2023 |
| Bailey-Bloch congenital myopathy | 3 | Mar 10, 2020 |
| Baraitser-Winter syndrome 1 | 1 | May 4, 2022 |
| Bardet-Biedl syndrome | 1 | Jul 1, 2017 |
| Bardet-Biedl syndrome 1 | 1 | May 4, 2022 |
| Bardet-Biedl syndrome 12 | 1 | May 3, 2023 |
| Bardet-Biedl syndrome 16 | 3 | Mar 10, 2020 |
| Bardet-Biedl syndrome 2 | 2 | Sep 26, 2018 |
| Bardet-Biedl syndrome 4 | 2 | May 4, 2022 |
| Bardet-Biedl syndrome 5 | 1 | Sep 26, 2018 |
| Basilicata-Akhtar syndrome | 1 | Sep 11, 2023 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 | Nov 21, 2018 |
| Bethlem myopathy 1A | 6 | Sep 11, 2023 |
| Bethlem myopathy 2 | 2 | May 3, 2023 |
| Bilateral frontoparietal polymicrogyria | 4 | Jan 27, 2023 |
| Biotin-responsive basal ganglia disease | 1 | Sep 26, 2018 |
| Biotinidase deficiency | 1 | Mar 10, 2020 |
| Blepharocheilodontic syndrome 2 | 1 | Jan 27, 2023 |
| Blepharophimosis - intellectual disability syndrome | 1 | May 3, 2023 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Mar 13, 2024 |
| Bloom syndrome | 1 | Oct 3, 2019 |
| Bone marrow failure syndrome 3 | 1 | Oct 3, 2019 |
| Bone marrow failure syndrome 5 | 1 | Jan 27, 2023 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 | Jun 20, 2024 |
| Bradyopsia | 1 | Sep 26, 2018 |
| Brain malformations with or without urinary tract defects | 3 | Sep 11, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 3 | May 4, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 3 | Mar 9, 2020 |
| Brown syndrome | 4 | Mar 13, 2024 |
| CDKL5 disorder | 1 | Nov 9, 2023 |
| CEP290-related ciliopathy | 1 | Jan 27, 2023 |
| CHARGE syndrome | 5 | Mar 13, 2024 |
| CODAS syndrome | 2 | Oct 3, 2019 |
| COG5-congenital disorder of glycosylation | 3 | Nov 17, 2020 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Mar 10, 2020 |
| Cataract | 1 | Jun 20, 2024 |
| Cataract 18 | 1 | May 3, 2023 |
| Cataract 2, multiple types | 1 | Mar 10, 2020 |
| Cayman type cerebellar ataxia | 1 | Jan 27, 2023 |
| Central core myopathy | 13 | May 3, 2023 |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Mar 13, 2024 |
| Cerebellar ataxia | 2 | Dec 21, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 2 | Oct 3, 2019 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 3 | Sep 11, 2023 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 2 | May 3, 2023 |
| Cerebral atrophy | 1 | Oct 5, 2020 |
| Cerebral creatine deficiency syndrome | 28 | Sep 13, 2022 |
| Cerebral folate transport deficiency | 2 | Jan 27, 2023 |
| Cerebral hypomyelination | 2 | May 29, 2020 |
| Ceroid lipofuscinosis, neuronal, 6A | 4 | Jan 27, 2023 |
| Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 1 | Mar 10, 2020 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Mar 10, 2020 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Mar 10, 2020 |
| Charcot-Marie-Tooth disease axonal type 2X | 1 | Jan 27, 2023 |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 | May 3, 2023 |
| Charcot-Marie-Tooth disease type 2R | 1 | May 3, 2023 |
| Charcot-Marie-Tooth disease type 4C | 2 | May 3, 2023 |
| Charlevoix-Saguenay spastic ataxia | 3 | Nov 13, 2023 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | May 4, 2022 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | May 29, 2020 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 1 | Jan 27, 2023 |
| Cholestanol storage disease | 1 | Mar 10, 2020 |
| Chorea | 2 | Jun 1, 2020 |
| Chromosome 13q33-q34 deletion syndrome | 1 | Sep 11, 2023 |
| Chromosome 15q13.3 microdeletion syndrome | 1 | Aug 29, 2022 |
| Chromosome 16p11.2 duplication syndrome | 1 | Aug 29, 2022 |
| Chromosome 17p13.3 duplication syndrome | 1 | Sep 11, 2023 |
| Chromosome 17q12 deletion syndrome | 1 | Sep 11, 2023 |
| Chromosome 22q11.2 deletion syndrome, distal | 1 | May 22, 2023 |
| Chromosome 22q11.2 microduplication syndrome | 1 | May 22, 2023 |
| Chromosome 22q13 duplication syndrome | 1 | Aug 29, 2022 |
| Chromosome 3q13.31 deletion syndrome | 1 | Sep 11, 2023 |
| Chromosome 4q21 deletion syndrome | 1 | Sep 11, 2023 |
| Chédiak-Higashi syndrome | 2 | Oct 3, 2019 |
| Ciliopathy | 2 | Mar 13, 2024 |
| Cobblestone lissencephaly without muscular or ocular involvement | 2 | May 3, 2023 |
| Coenzyme Q10 deficiency, primary, 1 | 2 | May 3, 2023 |
| Coffin-Siris syndrome | 3 | May 22, 2024 |
| Coffin-Siris syndrome 1 | 12 | Nov 9, 2023 |
| Cohen syndrome | 8 | May 3, 2023 |
| Collagen 6-related myopathy | 1 | May 3, 2023 |
| Combined PSAP deficiency | 1 | Jul 1, 2017 |
| Combined oxidative phosphorylation defect type 13 | 2 | Jun 27, 2018 |
| Combined oxidative phosphorylation deficiency 35 | 1 | May 4, 2022 |
| Complex I deficiency | 1 | Mar 10, 2020 |
| Complex cortical dysplasia with other brain malformations 4 | 4 | May 22, 2024 |
| Complex cortical dysplasia with other brain malformations 5 | 2 | May 22, 2024 |
| Complex cortical dysplasia with other brain malformations 6 | 1 | May 3, 2023 |
| Complex cortical dysplasia with other brain malformations 7 | 6 | May 22, 2024 |
| Complex neurodevelopmental disorder | 1 | May 29, 2020 |
| Cone dystrophy 4 | 3 | May 3, 2023 |
| Cone-rod dystrophy 12 | 4 | May 3, 2023 |
| Cone-rod dystrophy 13 | 1 | Sep 11, 2023 |
| Cone-rod dystrophy 15 | 6 | May 3, 2023 |
| Cone-rod dystrophy 16 | 1 | May 4, 2022 |
| Cone-rod dystrophy 2 | 3 | Sep 11, 2023 |
| Cone-rod dystrophy 20 | 1 | Jun 27, 2018 |
| Cone-rod dystrophy 3 | 4 | Oct 3, 2019 |
| Cone-rod dystrophy and hearing loss | 1 | May 3, 2023 |
| Cone-rod dystrophy and hearing loss 1 | 1 | Sep 11, 2023 |
| Congenital anomalies of kidney and urinary tract 1 | 1 | May 29, 2020 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | May 3, 2023 |
| Congenital anomaly of kidney and urinary tract | 3 | May 29, 2020 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Nov 21, 2018 |
| Congenital disorder of deglycosylation 1 | 1 | Sep 11, 2023 |
| Congenital disorder of glycosylation | 1 | May 4, 2022 |
| Congenital disorder of glycosylation type I | 1 | May 3, 2023 |
| Congenital fibrosis of extraocular muscles | 9 | Mar 13, 2024 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | Mar 13, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | Mar 13, 2024 |
| Congenital hydrocephalus | 1 | Jan 27, 2023 |
| Congenital hyperammonemia, type I | 1 | Mar 10, 2020 |
| Congenital isolated hyperinsulinism | 1 | Aug 16, 2023 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 8 | Nov 13, 2023 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Jan 27, 2023 |
| Congenital muscular dystrophy due to LMNA mutation | 1 | Sep 26, 2018 |
| Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 1 | May 29, 2020 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | May 3, 2023 |
| Congenital myasthenic syndrome 10 | 1 | Nov 9, 2023 |
| Congenital myasthenic syndrome 11 | 2 | May 22, 2024 |
| Congenital myasthenic syndrome 12 | 1 | May 3, 2023 |
| Congenital myasthenic syndrome 19 | 4 | May 3, 2023 |
| Congenital myasthenic syndrome 21 | 1 | May 29, 2020 |
| Congenital myasthenic syndrome 2C | 1 | Sep 11, 2023 |
| Congenital myasthenic syndrome 3A | 1 | May 4, 2022 |
| Congenital myasthenic syndrome 3B | 2 | May 4, 2022 |
| Congenital myasthenic syndrome 3C | 1 | May 4, 2022 |
| Congenital myasthenic syndrome 4A | 1 | May 4, 2022 |
| Congenital myasthenic syndrome 5 | 5 | Sep 11, 2023 |
| Congenital myopathy | 7 | Jun 20, 2024 |
| Congenital myopathy 11 | 1 | Jun 20, 2024 |
| Congenital myopathy with fiber type disproportion | 2 | May 3, 2023 |
| Congenital myotonia, autosomal dominant form | 1 | May 4, 2022 |
| Congenital myotonia, autosomal recessive form | 2 | May 3, 2023 |
| Congenital nephrotic syndrome | 1 | Jun 20, 2024 |
| Congenital nonprogressive myopathy with Moebius and Robin sequences | 3 | Nov 17, 2020 |
| Congenital omphalocele | 1 | Nov 17, 2020 |
| Congenital short bowel syndrome, autosomal recessive | 1 | Jan 27, 2023 |
| Congenital stationary night blindness 1C | 1 | Sep 26, 2018 |
| Cornelia de Lange syndrome 5 | 1 | May 3, 2023 |
| Corpus callosum, agenesis of | 1 | May 29, 2020 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Sep 11, 2023 |
| Cortisone reductase deficiency 2 | 1 | Mar 10, 2020 |
| Coxopodopatellar syndrome | 1 | May 3, 2023 |
| Craniofrontonasal syndrome | 2 | May 3, 2023 |
| Creatine transporter deficiency | 2 | May 3, 2023 |
| Cutis laxa with osteodystrophy | 2 | Jan 27, 2023 |
| Cystic fibrosis | 1 | Mar 10, 2020 |
| Cystic leukoencephalopathy without megalencephaly | 1 | Oct 3, 2019 |
| DYRK1A-related intellectual disability syndrome | 2 | Mar 13, 2024 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Nov 21, 2018 |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 | Mar 10, 2020 |
| Deletion of long arm of chromosome 18 | 1 | Aug 29, 2022 |
| Deletion of short arm of chromosome 18 | 1 | Sep 11, 2023 |
| Dent disease type 2 | 2 | May 3, 2023 |
| Desmin-related myofibrillar myopathy | 2 | Sep 11, 2023 |
| Developmental and epileptic encephalopathy 94 | 1 | Jan 27, 2023 |
| Developmental and epileptic encephalopathy, 1 | 1 | Sep 26, 2018 |
| Developmental and epileptic encephalopathy, 11 | 2 | Jan 27, 2023 |
| Developmental and epileptic encephalopathy, 12 | 1 | Oct 3, 2019 |
| Developmental and epileptic encephalopathy, 18 | 2 | Oct 7, 2022 |
| Developmental and epileptic encephalopathy, 19 | 1 | May 3, 2023 |
| Developmental and epileptic encephalopathy, 2 | 1 | May 4, 2022 |
| Developmental and epileptic encephalopathy, 25 | 16 | Sep 11, 2023 |
| Developmental and epileptic encephalopathy, 26 | 2 | May 22, 2024 |
| Developmental and epileptic encephalopathy, 28 | 5 | Sep 11, 2023 |
| Developmental and epileptic encephalopathy, 3 | 1 | May 3, 2023 |
| Developmental and epileptic encephalopathy, 31A | 1 | May 3, 2023 |
| Developmental and epileptic encephalopathy, 35 | 1 | May 3, 2023 |
| Developmental and epileptic encephalopathy, 39 | 1 | Sep 11, 2023 |
| Developmental and epileptic encephalopathy, 42 | 2 | Jan 27, 2023 |
| Developmental and epileptic encephalopathy, 44 | 2 | Jun 27, 2018 |
| Developmental and epileptic encephalopathy, 48 | 2 | May 4, 2022 |
| Developmental and epileptic encephalopathy, 54 | 1 | May 29, 2020 |
| Developmental and epileptic encephalopathy, 65 | 1 | May 29, 2020 |
| Developmental and epileptic encephalopathy, 9 | 1 | Nov 21, 2018 |
| Developmental delay with or without dysmorphic facies and autism | 1 | May 3, 2023 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | Sep 11, 2023 |
| Developmental regression | 1 | Mar 11, 2020 |
| Dextrocardia | 1 | May 29, 2020 |
| DiGeorge syndrome | 1 | Sep 11, 2023 |
| Diamond-Blackfan anemia | 4 | May 22, 2024 |
| Diamond-Blackfan anemia 1 | 2 | Jan 27, 2023 |
| Diamond-Blackfan anemia 10 | 3 | May 3, 2023 |
| Diamond-Blackfan anemia 13 | 1 | Oct 3, 2019 |
| Diamond-Blackfan anemia 4 | 1 | Sep 11, 2023 |
| Diamond-Blackfan anemia 5 | 1 | Sep 11, 2023 |
| Diamond-Blackfan anemia 7 | 1 | May 4, 2022 |
| Diamond-Blackfan anemia 8 | 2 | May 3, 2023 |
| Dias-Logan syndrome | 1 | May 3, 2023 |
| Diastrophic dysplasia | 2 | Mar 10, 2020 |
| Diencephalic-mesencephalic junction dysplasia | 2 | May 29, 2020 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | May 3, 2023 |
| Dihydropteridine reductase deficiency | 2 | May 3, 2023 |
| Dilated cardiomyopathy 1G | 1 | Sep 11, 2023 |
| Dilated cardiomyopathy 1I | 1 | Mar 10, 2020 |
| Dilated cardiomyopathy 1KK | 1 | Mar 10, 2020 |
| Distal arthrogryposis type 5D | 1 | Mar 13, 2024 |
| Distal myopathy with posterior leg and anterior hand involvement | 2 | May 3, 2023 |
| Dominant beta-thalassemia | 1 | Jan 27, 2023 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Sep 26, 2018 |
| Duane retraction syndrome | 17 | Mar 13, 2024 |
| Duane retraction syndrome 2 | 2 | Mar 13, 2024 |
| Duane syndrome type 1 | 1 | Mar 13, 2024 |
| Duane-radial ray syndrome | 1 | Mar 13, 2024 |
| Duchenne and Becker muscular dystrophy | 3 | May 3, 2023 |
| Duchenne muscular dystrophy | 11 | Nov 13, 2023 |
| Dystonia 5 | 1 | Mar 13, 2024 |
| EAST syndrome | 1 | Jan 27, 2023 |
| Early infantile epileptic encephalopathy with suppression bursts | 2 | May 29, 2020 |
| Early myoclonic encephalopathy | 1 | Oct 3, 2019 |
| Early-onset myopathy with fatal cardiomyopathy | 8 | Oct 22, 2024 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 6 | May 3, 2023 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2 | May 3, 2023 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2 | Jan 27, 2023 |
| Eichsfeld type congenital muscular dystrophy | 42 | Jan 27, 2023 |
| Elliptocytosis 2 | 1 | Oct 3, 2019 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Oct 3, 2019 |
| Encephalopathy due to GLUT1 deficiency | 1 | Sep 26, 2018 |
| Epidermolysis bullosa simplex, Ogna type | 1 | Mar 10, 2020 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Mar 10, 2020 |
| Epileptic encephalopathy, infantile or early childhood | 1 | May 3, 2023 |
| Exudative vitreoretinopathy 1 | 1 | Mar 10, 2020 |
| FOXG1 disorder | 1 | Mar 13, 2024 |
| Fabry disease | 29 | Aug 5, 2024 |
| Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | 2 | Mar 13, 2024 |
| Facial paresis, hereditary congenital, 3 | 1 | Sep 26, 2018 |
| Familial Mediterranean fever, autosomal dominant | 1 | Jul 1, 2017 |
| Familial hemophagocytic lymphohistiocytosis 2 | 1 | Mar 10, 2020 |
| Familial hypercholesterolemia | 28 | Sep 4, 2024 |
| Familial hypobetalipoproteinemia 1 | 3 | Mar 9, 2020 |
| Familial hypokalemia-hypomagnesemia | 5 | May 3, 2023 |
| Familial infantile myasthenia | 2 | May 4, 2022 |
| Familial isolated congenital asplenia | 1 | Jan 27, 2023 |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 | Jan 27, 2023 |
| Familial partial lipodystrophy | 2 | Mar 9, 2020 |
| Familial visceral amyloidosis, Ostertag type | 1 | Mar 10, 2020 |
| Fanconi anemia complementation group A | 4 | Sep 11, 2023 |
| Fetal akinesia deformation sequence 1 | 1 | May 3, 2023 |
| Fetal akinesia deformation sequence 2 | 1 | May 22, 2024 |
| Fetal and neonatal alloimmune thrombocytopenia | 1 | Mar 10, 2020 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Mar 13, 2024 |
| Fibrosis of extraocular muscles, congenital, 3b | 1 | Mar 13, 2024 |
| Finnish congenital nephrotic syndrome | 11 | Oct 7, 2024 |
| Floating-Harbor syndrome | 2 | Jan 27, 2023 |
| Focal dermal hypoplasia | 1 | Oct 3, 2019 |
| Focal segmental glomerulosclerosis 7 | 2 | Jan 27, 2023 |
| Fucosidosis | 1 | Nov 21, 2018 |
| Fucosyltransferase 6 deficiency | 4 | Mar 10, 2020 |
| GUCY2D retinopathy | 1 | Jan 27, 2023 |
| Galactosylceramide beta-galactosidase deficiency | 3 | Mar 10, 2020 |
| Galloway-Mowat syndrome | 2 | May 22, 2024 |
| Galloway-Mowat syndrome 1 | 2 | Mar 10, 2020 |
| Gaucher disease | 37 | Mar 9, 2020 |
| Gaucher disease type I | 8 | Mar 9, 2020 |
| Geleophysic dysplasia 1 | 1 | May 3, 2023 |
| Genitopatellar syndrome | 3 | Jan 27, 2023 |
| Giant axonal neuropathy 1 | 1 | May 3, 2023 |
| Global developmental delay | 3 | Jun 1, 2020 |
| Glycogen storage disease IXb | 1 | Mar 10, 2020 |
| Glycogen storage disease type III | 1 | Nov 9, 2023 |
| Glycogen storage disease, type II | 212 | Jan 27, 2023 |
| Glycogen storage disease, type IV | 41 | Jul 17, 2024 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 1 | Jan 27, 2023 |
| Glycoprotein storage disease | 1 | Mar 9, 2020 |
| Goldberg-Shprintzen syndrome | 2 | Mar 13, 2024 |
| Gray platelet syndrome | 1 | May 3, 2023 |
| Greig cephalopolysyndactyly syndrome | 1 | May 3, 2023 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | May 3, 2023 |
| Hao-Fountain syndrome | 1 | Jan 27, 2023 |
| Harderoporphyria | 1 | Jan 27, 2023 |
| Harel-Yoon syndrome | 1 | May 4, 2022 |
| Hemiparkinsonism-hemiatrophy syndrome | 1 | Nov 17, 2020 |
| Hepatocellular carcinoma | 1 | Mar 10, 2020 |
| Hereditary North American Indian childhood cirrhosis | 1 | Mar 10, 2020 |
| Hereditary factor VIII deficiency disease | 1 | Mar 10, 2020 |
| Hereditary fructosuria | 1 | Sep 11, 2023 |
| Hereditary hyperferritinemia with congenital cataracts | 1 | May 3, 2023 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Jan 27, 2023 |
| Hereditary spastic paraplegia | 1 | Jun 20, 2024 |
| Hereditary spastic paraplegia 11 | 8 | Jan 27, 2023 |
| Hereditary spastic paraplegia 26 | 1 | Nov 21, 2018 |
| Hereditary spastic paraplegia 4 | 1 | May 3, 2023 |
| Hereditary spastic paraplegia 50 | 1 | Dec 21, 2023 |
| Hereditary spastic paraplegia 51 | 3 | Sep 11, 2023 |
| Hereditary spastic paraplegia 56 | 2 | May 3, 2023 |
| Hereditary spastic paraplegia 5A | 2 | Nov 21, 2018 |
| Hereditary spastic paraplegia 62 | 1 | May 3, 2023 |
| Hereditary spherocytosis type 1 | 1 | Mar 10, 2020 |
| Hereditary spherocytosis type 2 | 4 | Jan 27, 2023 |
| Hereditary spherocytosis type 4 | 1 | Mar 10, 2020 |
| Hereditary xanthinuria type 1 | 1 | Mar 10, 2020 |
| Hermansky-Pudlak syndrome | 30 | Feb 11, 2022 |
| Hermansky-Pudlak syndrome 4 | 9 | Jan 27, 2023 |
| Hirschsprung disease, susceptibility to, 4 | 1 | Mar 10, 2020 |
| Holoprosencephaly 3 | 1 | Sep 11, 2023 |
| Holoprosencephaly 5 | 1 | Sep 11, 2023 |
| Holoprosencephaly 9 | 1 | Mar 10, 2020 |
| Houge-Janssens syndrome 2 | 1 | May 22, 2024 |
| Hyperalphalipoproteinemia 1 | 1 | Mar 10, 2020 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Mar 9, 2020 |
| Hypercholesterolemia, autosomal dominant, type B | 3 | Mar 9, 2020 |
| Hypercholesterolemia, familial, 1 | 39 | Sep 4, 2024 |
| Hyperekplexia 1 | 2 | May 3, 2023 |
| Hyperekplexia 3 | 1 | Mar 10, 2020 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 99 | Aug 16, 2023 |
| Hyperinsulinemic hypoglycemia, familial, 4 | 9 | Nov 2, 2021 |
| Hyperlipidemia, familial combined, LPL related | 4 | Aug 5, 2024 |
| Hypermanganesemia with dystonia 2 | 1 | Nov 17, 2020 |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 1 | Jan 27, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Nov 21, 2018 |
| Hypertelorism and tetralogy of fallot | 1 | Nov 17, 2020 |
| Hypertriglyceridemia | 3 | Mar 10, 2020 |
| Hypertrophic cardiomyopathy | 3 | Sep 4, 2024 |
| Hypertrophic cardiomyopathy 2 | 1 | Oct 3, 2019 |
| Hypertrophic cardiomyopathy 25 | 1 | Mar 10, 2020 |
| Hypertrophic cardiomyopathy 26 | 1 | Oct 3, 2019 |
| Hypertrophic cardiomyopathy 3 | 2 | Oct 3, 2019 |
| Hypertrophic cardiomyopathy 4 | 2 | Oct 3, 2019 |
| Hypertrophic cardiomyopathy 7 | 1 | Oct 3, 2019 |
| Hypogonadotropic hypogonadism 15 with or without anosmia | 1 | Mar 10, 2020 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Sep 11, 2023 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Oct 3, 2019 |
| Hypomyelinating leukodystrophy 10 | 1 | Jun 27, 2018 |
| Hypomyelinating leukodystrophy 12 | 2 | Nov 17, 2020 |
| Hypomyelinating leukodystrophy 2 | 1 | Nov 21, 2018 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 38 | May 3, 2023 |
| Hypomyelinating leukodystrophy 9 | 1 | Nov 21, 2018 |
| Hypomyelination and Congenital Cataract | 2 | Mar 10, 2020 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | May 29, 2020 |
| Hypospadias 2, X-linked | 1 | Mar 10, 2020 |
| Hypotonia, ataxia, and delayed development syndrome | 3 | Mar 13, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 3 | May 3, 2023 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 | Nov 21, 2018 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Sep 11, 2023 |
| Immune dysregulation, autoimmunity, and autoinflammation | 2 | Jun 20, 2024 |
| Infantile cerebellar-retinal degeneration | 1 | Sep 11, 2023 |
| Infantile epilepsy | 1 | Mar 10, 2020 |
| Infantile neuroaxonal dystrophy | 3 | May 3, 2023 |
| Infantile-onset ascending hereditary spastic paralysis | 3 | May 4, 2022 |
| Inflammatory bowel disease | 1 | Mar 10, 2020 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | May 3, 2023 |
| Intellectual developmental disorder 62 | 1 | Jan 27, 2023 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | Jan 27, 2023 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 | Mar 13, 2024 |
| Intellectual developmental disorder with neuropsychiatric features | 2 | May 22, 2024 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | May 29, 2020 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 2 | Sep 11, 2023 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 2 | Aug 29, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 1 | Dec 21, 2023 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | May 3, 2023 |
| Intellectual disability | 12 | May 22, 2024 |
| Intellectual disability, X-linked 102 | 7 | Sep 11, 2023 |
| Intellectual disability, X-linked 104 | 1 | Nov 21, 2018 |
| Intellectual disability, X-linked 106 | 1 | May 29, 2020 |
| Intellectual disability, X-linked 99 | 1 | Mar 10, 2020 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 3 | May 3, 2023 |
| Intellectual disability, X-linked, syndromic 33 | 1 | Sep 26, 2018 |
| Intellectual disability, autosomal dominant 1 | 1 | Aug 29, 2022 |
| Intellectual disability, autosomal dominant 14 | 4 | Jan 27, 2023 |
| Intellectual disability, autosomal dominant 20 | 1 | Sep 11, 2023 |
| Intellectual disability, autosomal dominant 22 | 10 | Oct 6, 2023 |
| Intellectual disability, autosomal dominant 42 | 1 | May 4, 2022 |
| Intellectual disability, autosomal dominant 5 | 2 | May 3, 2023 |
| Intellectual disability, autosomal dominant 55, with seizures | 1 | Sep 11, 2023 |
| Intellectual disability, autosomal dominant 56 | 1 | Jan 27, 2023 |
| Intellectual disability, autosomal dominant 57 | 2 | Aug 29, 2022 |
| Intellectual disability, autosomal dominant 8 | 1 | Oct 3, 2019 |
| Intellectual disability, autosomal dominant 9 | 1 | Oct 3, 2019 |
| Intellectual disability, autosomal recessive 13 | 3 | May 3, 2023 |
| Intellectual disability, autosomal recessive 5 | 3 | May 3, 2023 |
| Intellectual disability, autosomal recessive 57 | 1 | May 29, 2020 |
| Intellectual disability, autosomal recessive 65 | 1 | May 3, 2023 |
| Intellectual disability, autosomal recessive 66 | 2 | May 4, 2022 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 5 | May 4, 2022 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Jan 27, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | May 3, 2023 |
| Intellectual disability-strabismus syndrome | 1 | Jun 27, 2018 |
| Interstitial 6q microdeletion syndrome | 1 | Aug 29, 2022 |
| Iron-refractory iron deficiency anemia | 9 | Jun 20, 2024 |
| Isolated Pierre-Robin syndrome | 1 | Jun 27, 2018 |
| Jaw-winking syndrome | 4 | Mar 1, 2024 |
| Jeune thoracic dystrophy | 1 | Jan 27, 2023 |
| Joubert syndrome 1 | 3 | May 3, 2023 |
| Joubert syndrome 10 | 1 | Jul 1, 2017 |
| Joubert syndrome 13 | 2 | Sep 26, 2018 |
| Joubert syndrome 14 | 2 | Sep 26, 2018 |
| Joubert syndrome 17 | 11 | Mar 10, 2020 |
| Joubert syndrome 23 | 2 | Mar 13, 2024 |
| Joubert syndrome 24 | 1 | Jan 27, 2023 |
| Joubert syndrome 25 | 1 | Jan 27, 2023 |
| Joubert syndrome 27 | 1 | May 4, 2022 |
| Joubert syndrome 28 | 1 | May 3, 2023 |
| Joubert syndrome 3 | 7 | May 4, 2022 |
| Joubert syndrome 30 | 4 | Mar 13, 2024 |
| Joubert syndrome 33 | 1 | Jan 27, 2023 |
| Joubert syndrome 5 | 4 | May 4, 2022 |
| Joubert syndrome 6 | 9 | May 22, 2024 |
| Joubert syndrome 7 | 3 | Jan 27, 2023 |
| Joubert syndrome 9 | 4 | May 4, 2022 |
| Juvenile amyotrophic lateral sclerosis | 1 | May 4, 2022 |
| KBG syndrome | 1 | Jan 27, 2023 |
| Kabuki syndrome 1 | 5 | Mar 13, 2024 |
| King Denborough syndrome | 2 | Mar 9, 2020 |
| Kleefstra syndrome 1 | 1 | Nov 9, 2023 |
| Koolen-de Vries syndrome | 3 | May 22, 2024 |
| L-ferritin deficiency | 1 | Jan 27, 2023 |
| L1 syndrome | 1 | May 3, 2023 |
| LAMA2-related muscular dystrophy | 1 | May 3, 2023 |
| LAMB2-related infantile-onset nephrotic syndrome | 2 | Mar 10, 2020 |
| Lafora disease | 2 | Mar 29, 2024 |
| Landau-Kleffner syndrome | 1 | May 22, 2024 |
| Laron-type isolated somatotropin defect | 1 | May 3, 2023 |
| Late-onset retinal degeneration | 2 | Oct 3, 2019 |
| Lateral meningocele syndrome | 1 | Dec 21, 2023 |
| Leber congenital amaurosis | 1 | May 29, 2020 |
| Leber congenital amaurosis 10 | 4 | May 4, 2022 |
| Leber congenital amaurosis 13 | 6 | May 29, 2020 |
| Leber congenital amaurosis 2 | 1 | Mar 10, 2020 |
| Leber congenital amaurosis 6 | 8 | Nov 17, 2020 |
| Leber congenital amaurosis 8 | 2 | Oct 3, 2019 |
| Left ventricular noncompaction 8 | 1 | Mar 10, 2020 |
| Leigh syndrome | 4 | May 3, 2023 |
| Lethal congenital contracture syndrome 11 | 2 | Oct 3, 2019 |
| Lethal congenital contracture syndrome 7 | 1 | Jul 17, 2024 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 1 | Nov 9, 2023 |
| Leukocyte adhesion deficiency type II | 1 | Nov 21, 2018 |
| Leukodystrophy | 41 | Jan 25, 2024 |
| Leukodystrophy, hypomyelinating, 18 | 2 | Jan 27, 2023 |
| Leukoencephalopathy | 1 | Mar 11, 2020 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 | Sep 4, 2024 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 32 | Jan 25, 2024 |
| Limb-girdle muscular dystrophy | 3 | May 29, 2020 |
| Limb-girdle muscular dystrophy due to POMK deficiency | 2 | Oct 3, 2019 |
| Lipodystrophy | 2 | Mar 9, 2020 |
| Lissencephaly | 1 | May 4, 2022 |
| Lissencephaly 9 with complex brainstem malformation | 1 | Mar 13, 2024 |
| Lissencephaly due to LIS1 mutation | 2 | Jun 27, 2018 |
| Lissencephaly due to TUBA1A mutation | 14 | May 22, 2024 |
| Lissencephaly type 1 due to doublecortin gene mutation | 3 | Nov 9, 2023 |
| Lissencephaly type 3 | 1 | Mar 13, 2024 |
| Low bone mineral density | 1 | Mar 10, 2020 |
| MED12-related intellectual disability syndrome | 1 | May 3, 2023 |
| MGAT2-congenital disorder of glycosylation | 2 | Sep 26, 2018 |
| MYH7-related skeletal myopathy | 1 | Oct 3, 2019 |
| Macrocephaly | 2 | Jun 1, 2020 |
| Macrocephaly-autism syndrome | 1 | Jan 27, 2023 |
| Malan overgrowth syndrome | 1 | Jan 27, 2023 |
| Maple syrup urine disease | 1 | Mar 10, 2020 |
| Martsolf syndrome 1 | 1 | Jan 27, 2023 |
| Maturity onset diabetes mellitus in young | 11 | Mar 9, 2020 |
| Maturity-onset diabetes of the young type 1 | 8 | Mar 9, 2020 |
| Maturity-onset diabetes of the young type 2 | 20 | Mar 9, 2020 |
| Maturity-onset diabetes of the young type 3 | 33 | Mar 9, 2020 |
| Maturity-onset diabetes of the young type 4 | 4 | Mar 9, 2020 |
| Maturity-onset diabetes of the young type 8 | 2 | Mar 9, 2020 |
| Meckel syndrome, type 1 | 1 | May 3, 2023 |
| Meckel syndrome, type 11 | 2 | May 22, 2024 |
| Meckel-Gruber-like syndrome | 1 | Mar 10, 2020 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 2 | Nov 21, 2018 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Sep 11, 2023 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Oct 3, 2019 |
| Menke-Hennekam syndrome 1 | 1 | Aug 29, 2022 |
| Merosin deficient congenital muscular dystrophy | 3 | Nov 17, 2020 |
| Metachromatic leukodystrophy | 2 | May 3, 2023 |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 1 | Mar 10, 2020 |
| Metopic ridging-ptosis-facial dysmorphism syndrome | 1 | May 29, 2020 |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 | May 3, 2023 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 2 | May 3, 2023 |
| Microcephalic primordial dwarfism, Alazami type | 1 | May 3, 2023 |
| Microcephaly | 2 | Jun 20, 2024 |
| Microcephaly 13, primary, autosomal recessive | 1 | May 4, 2022 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2 | May 22, 2024 |
| Microcephaly 20, primary, autosomal recessive | 1 | May 29, 2020 |
| Microcephaly 5, primary, autosomal recessive | 10 | Jan 27, 2023 |
| Microcephaly 6, primary, autosomal recessive | 2 | May 4, 2022 |
| Microcephaly 7, primary, autosomal recessive | 1 | Jan 27, 2023 |
| Microcephaly and chorioretinopathy 3 | 1 | May 3, 2023 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 5 | May 3, 2023 |
| Microcephaly, seizures, and developmental delay | 2 | Nov 13, 2023 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Sep 11, 2023 |
| Microphthalmia | 1 | Jun 20, 2024 |
| Mirror movements 1 | 3 | Sep 11, 2023 |
| Mirror movements 1 and/or agenesis of the corpus callosum | 2 | May 3, 2023 |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 3 | Mar 10, 2020 |
| Mitochondrial DNA depletion syndrome 13 | 2 | May 3, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 1 | May 3, 2023 |
| Mitochondrial complex I deficiency | 1 | Nov 17, 2020 |
| Mitochondrial complex I deficiency, nuclear type | 1 | Oct 7, 2024 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Oct 3, 2019 |
| Mitochondrial complex III deficiency nuclear type 2 | 1 | Sep 11, 2023 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 1 | Oct 3, 2019 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | Sep 26, 2018 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 6 | Jan 27, 2023 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 | Nov 17, 2020 |
| Miyoshi muscular dystrophy 3 | 1 | Jan 27, 2023 |
| Monogenic diabetes | 19 | Mar 9, 2020 |
| Mowat-Wilson syndrome | 6 | Jan 27, 2023 |
| Mucopolysaccharidosis type 1 | 32 | Dec 11, 2023 |
| Mucopolysaccharidosis, MPS-I-H/S | 2 | Oct 3, 2019 |
| Mulibrey nanism syndrome | 4 | Nov 17, 2020 |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 1 | Oct 3, 2019 |
| Multicystic kidney dysplasia | 1 | May 29, 2020 |
| Multiminicore myopathy | 3 | Dec 21, 2023 |
| Multiple congenital anomalies/dysmorphic syndrome | 1 | Sep 11, 2023 |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 | May 4, 2022 |
| Multiple mitochondrial dysfunctions syndrome 6 | 1 | May 3, 2023 |
| Muscular atrophy | 1 | May 29, 2020 |
| Muscular dystrophy | 1 | Jul 1, 2017 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | May 29, 2020 |
| Muscular dystrophy-dystroglycanopathy | 53 | Jan 27, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Sep 26, 2018 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 | Jul 1, 2017 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Sep 26, 2018 |
| Muscular dystrophy-dystroglycanopathy type B5 | 1 | May 29, 2020 |
| Muscular dystrophy-dystroglycanopathy, type C | 1 | May 3, 2023 |
| Myeloperoxidase deficiency | 1 | Mar 10, 2020 |
| Myeloproliferative neoplasm | 1 | Dec 21, 2023 |
| Myhre syndrome | 1 | Jul 1, 2017 |
| Myofibrillar myopathy 4 | 1 | Jan 27, 2023 |
| Myofibrillar myopathy 6 | 3 | Mar 10, 2020 |
| Myofibrillar myopathy 8 | 3 | May 3, 2023 |
| Myopathy caused by variation in GMPPB | 1 | May 3, 2023 |
| Myopathy, centronuclear, 5 | 5 | Jan 27, 2023 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 1 | May 29, 2020 |
| Myopathy, distal, 5 | 2 | Nov 9, 2023 |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 2 | Oct 2, 2023 |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 1 | Oct 3, 2019 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 | May 3, 2023 |
| Myopathy, proximal, and ophthalmoplegia | 2 | May 3, 2023 |
| Myopathy, tubular aggregate, 1 | 2 | May 22, 2024 |
| Myosin storage myopathy | 4 | May 3, 2023 |
| Nemaline myopathy 10 | 1 | Jan 27, 2023 |
| Nemaline myopathy 2 | 19 | Sep 4, 2024 |
| Nemaline myopathy 5 | 3 | May 3, 2023 |
| Neonatal death | 2 | Oct 3, 2019 |
| Nephronophthisis | 2 | May 29, 2020 |
| Nephronophthisis 1 | 1 | Sep 11, 2023 |
| Nephronophthisis 12 | 2 | Jul 1, 2017 |
| Nephronophthisis 3 | 2 | Sep 26, 2018 |
| Nephronophthisis 4 | 1 | Mar 10, 2020 |
| Nephrotic syndrome | 1 | May 29, 2020 |
| Nephrotic syndrome, type 12 | 3 | Oct 3, 2019 |
| Nephrotic syndrome, type 2 | 2 | Oct 3, 2019 |
| Nephrotic syndrome, type 3 | 2 | Sep 11, 2023 |
| Nephrotic syndrome, type 4 | 1 | May 3, 2023 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 | May 3, 2023 |
| Neurodegeneration with brain iron accumulation 5 | 1 | May 22, 2024 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Jan 27, 2023 |
| Neurodevelopmental disorder | 35 | Jun 20, 2024 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 3 | May 4, 2022 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Jan 27, 2023 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Jan 27, 2023 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2 | May 29, 2020 |
| Neurodevelopmental disorder with involuntary movements | 1 | Oct 2, 2023 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 2 | Sep 11, 2023 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 4 | Sep 11, 2023 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 4 | May 22, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Sep 11, 2023 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Oct 3, 2019 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Nov 17, 2020 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 2 | Aug 29, 2022 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 2 | Nov 17, 2020 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 1 | Jan 27, 2023 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 2 | Jun 20, 2024 |
| Neuromuscular disease | 2 | Jun 20, 2024 |
| Neuronal ceroid lipofuscinosis | 1 | May 3, 2023 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Jan 27, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 2 | May 3, 2023 |
| Neuronal ceroid lipofuscinosis 3 | 1 | Feb 12, 2024 |
| Neuronal ceroid lipofuscinosis 5 | 2 | May 4, 2022 |
| Neuronal ceroid lipofuscinosis 7 | 4 | Sep 11, 2023 |
| Neuronal ceroid lipofuscinosis 8 | 2 | May 4, 2022 |
| Neuronopathy, distal hereditary motor, type 2A | 1 | May 29, 2020 |
| Neuronopathy, distal hereditary motor, type 7A | 1 | May 3, 2023 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Nov 17, 2020 |
| Neutral 1 amino acid transport defect | 1 | May 3, 2023 |
| Niemann-Pick disease, type A | 1 | Mar 9, 2020 |
| Niemann-Pick disease, type C1 | 2 | Oct 3, 2019 |
| Non-ketotic hyperglycinemia | 2 | May 4, 2022 |
| Noonan syndrome 1 | 1 | Oct 3, 2019 |
| Noonan syndrome 2 | 2 | May 3, 2023 |
| Noonan syndrome 8 | 1 | Oct 3, 2019 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Oct 3, 2019 |
| Norman-Roberts syndrome | 1 | May 3, 2023 |
| OPA1-related optic atrophy with or without extraocular features | 2 | Mar 13, 2024 |
| Obesity | 13 | Mar 9, 2020 |
| Occult macular dystrophy | 1 | May 22, 2024 |
| Ocular motility disease | 1 | Mar 1, 2024 |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 1 | Sep 11, 2023 |
| Orofaciodigital syndrome type 14 | 1 | May 4, 2022 |
| Osteodysplastic primordial dwarfism, type 1 | 1 | Dec 21, 2023 |
| Osteopathia striata with cranial sclerosis | 1 | May 3, 2023 |
| PCARE-related retinopathy | 1 | May 3, 2023 |
| PEHO syndrome | 1 | May 29, 2020 |
| PHGDH deficiency | 2 | May 3, 2023 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Dec 21, 2023 |
| PLA2G6-associated neurodegeneration | 79 | Jan 27, 2023 |
| PMM2-congenital disorder of glycosylation | 1 | Nov 21, 2018 |
| PPARG-related familial partial lipodystrophy | 1 | Mar 9, 2020 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | 1 | May 3, 2023 |
| Pancytopenia-developmental delay syndrome | 1 | May 3, 2023 |
| Parkinson disease 13, autosomal dominant, susceptibility to | 1 | Mar 10, 2020 |
| Pelizaeus-Merzbacher disease | 1 | Mar 10, 2020 |
| Pendred syndrome | 1 | Mar 10, 2020 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 4 | Mar 13, 2024 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Mar 10, 2020 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 1 | Mar 10, 2020 |
| Peroxisome biogenesis disorder 8A (Zellweger) | 1 | Oct 3, 2019 |
| Peroxisome biogenesis disorder due to PEX1 defect | 1 | May 3, 2023 |
| Peroxisome biogenesis disorder due to PEX5 defect | 2 | Jan 27, 2023 |
| Pettigrew syndrome | 1 | May 3, 2023 |
| Phelan-McDermid syndrome | 2 | Sep 11, 2023 |
| Piebaldism | 1 | Mar 10, 2020 |
| Pitt-Hopkins syndrome | 4 | Nov 13, 2023 |
| Polycystic kidney disease, adult type | 1 | Oct 3, 2019 |
| Polydactyly | 1 | Mar 13, 2024 |
| Polyglucosan body myopathy type 2 | 2 | May 3, 2023 |
| Polymicrogyria | 1 | Sep 11, 2023 |
| Pontocerebellar hypoplasia type 10 | 1 | Oct 3, 2019 |
| Pontocerebellar hypoplasia type 1A | 2 | Jan 27, 2023 |
| Pontocerebellar hypoplasia type 1B | 1 | Oct 3, 2019 |
| Pontocerebellar hypoplasia type 2A | 1 | Oct 3, 2019 |
| Pontocerebellar hypoplasia type 2D | 1 | Nov 21, 2018 |
| Pontocerebellar hypoplasia type 3 | 1 | Nov 21, 2018 |
| Pontocerebellar hypoplasia type 9 | 2 | Jan 27, 2023 |
| Pontocerebellar hypoplasia, type 11 | 1 | May 29, 2020 |
| Pontocerebellar hypoplasia, type 1C | 2 | Oct 3, 2019 |
| Porencephaly 2 | 1 | Jan 27, 2023 |
| Premature ovarian failure | 2 | Mar 10, 2020 |
| Primary ciliary dyskinesia 23 | 1 | Mar 13, 2024 |
| Primary erythromelalgia | 1 | Mar 10, 2020 |
| Primary hyperoxaluria, type I | 1 | Jun 27, 2018 |
| Primrose syndrome | 1 | May 22, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 | Mar 10, 2020 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | Nov 21, 2018 |
| Progressive muscle weakness | 2 | Feb 28, 2019 |
| Progressive pseudorheumatoid dysplasia | 1 | Mar 10, 2020 |
| Pseudo-Hurler polydystrophy | 1 | Mar 10, 2020 |
| Pseudo-TORCH syndrome 1 | 2 | May 3, 2023 |
| Pseudo-TORCH syndrome 2 | 1 | May 3, 2023 |
| Pseudopseudohypoparathyroidism | 1 | Sep 26, 2018 |
| Psoriasis | 1 | Mar 10, 2020 |
| Ptosis | 1 | Mar 13, 2024 |
| Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant | 1 | May 4, 2022 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Jan 27, 2023 |
| Pyruvate kinase deficiency of red cells | 1 | Mar 10, 2020 |
| Qualitative or quantitative defects of alpha-sarcoglycan | 1 | Jan 27, 2023 |
| Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | 1 | Jan 27, 2023 |
| Qualitative or quantitative defects of calpain | 1 | Jan 27, 2023 |
| Qualitative or quantitative defects of dysferlin | 2 | May 3, 2023 |
| Qualitative or quantitative defects of merosin | 2 | May 3, 2023 |
| Qualitative or quantitative defects of myotubularin | 1 | Jan 27, 2023 |
| Qualitative or quantitative defects of plectin | 1 | May 3, 2023 |
| RASopathy | 1 | Mar 13, 2024 |
| RPGR-related retinopathy | 6 | May 3, 2023 |
| RYR1-related myopathy | 18 | Mar 13, 2024 |
| Radial aplasia-thrombocytopenia syndrome | 2 | Sep 11, 2023 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2 | May 17, 2023 |
| Rahman syndrome | 1 | Oct 3, 2019 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 11 | May 3, 2023 |
| Renal agenesis | 1 | Sep 11, 2023 |
| Renal cysts and diabetes syndrome | 10 | Dec 21, 2023 |
| Renal hypodysplasia/aplasia 3 | 2 | Jan 27, 2023 |
| Renal tubular acidosis with progressive nerve deafness | 1 | Mar 10, 2020 |
| Renal-hepatic-pancreatic dysplasia 1 | 1 | May 3, 2023 |
| Renpenning syndrome | 1 | May 3, 2023 |
| Retinal disorder | 1 | Aug 31, 2023 |
| Retinal dystrophy | 1 | Jun 20, 2024 |
| Retinal dystrophy with or without macular staphyloma | 2 | May 3, 2023 |
| Retinitis pigmentosa | 241 | May 25, 2022 |
| Retinitis pigmentosa 1 | 1 | Mar 10, 2020 |
| Retinitis pigmentosa 11 | 8 | Sep 11, 2023 |
| Retinitis pigmentosa 12 | 3 | Sep 11, 2023 |
| Retinitis pigmentosa 14 | 2 | May 3, 2023 |
| Retinitis pigmentosa 19 | 5 | May 3, 2023 |
| Retinitis pigmentosa 2 | 1 | Mar 10, 2020 |
| Retinitis pigmentosa 25 | 3 | Sep 11, 2023 |
| Retinitis pigmentosa 26 | 2 | May 4, 2022 |
| Retinitis pigmentosa 3 | 4 | Sep 11, 2023 |
| Retinitis pigmentosa 33 | 1 | Oct 3, 2019 |
| Retinitis pigmentosa 38 | 3 | Sep 11, 2023 |
| Retinitis pigmentosa 39 | 2 | Jul 1, 2017 |
| Retinitis pigmentosa 4 | 1 | Sep 26, 2018 |
| Retinitis pigmentosa 40 | 3 | May 3, 2023 |
| Retinitis pigmentosa 56 | 1 | May 3, 2023 |
| Retinitis pigmentosa 59 | 2 | May 4, 2022 |
| Retinitis pigmentosa 62 | 1 | Sep 11, 2023 |
| Retinitis pigmentosa 69 | 1 | Jun 5, 2023 |
| Retinitis pigmentosa 74 | 4 | May 4, 2022 |
| Retinitis pigmentosa 76 | 2 | Jan 27, 2023 |
| Retinitis pigmentosa 78 | 2 | Oct 3, 2019 |
| Retinitis pigmentosa 79 | 2 | May 29, 2020 |
| Retinitis pigmentosa 80 | 1 | Jan 27, 2023 |
| Rett syndrome, congenital variant | 3 | Sep 11, 2023 |
| Rh-null, regulator type | 1 | Mar 10, 2020 |
| Roifman syndrome | 2 | May 3, 2023 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 3 | Sep 11, 2023 |
| SELENON-related myopathy | 1 | Nov 9, 2023 |
| SLC39A8-CDG | 1 | Sep 26, 2018 |
| Saldino-Mainzer syndrome | 3 | Sep 11, 2023 |
| Sandhoff disease | 1 | Sep 11, 2023 |
| Sarcotubular myopathy | 5 | Oct 3, 2019 |
| Schaaf-Yang syndrome | 1 | May 29, 2020 |
| Schimke immuno-osseous dysplasia | 2 | Jul 1, 2017 |
| Schizophrenia | 1 | Mar 10, 2020 |
| Schwartz-Jampel syndrome | 2 | Nov 21, 2018 |
| See cases | 35 | Feb 11, 2019 |
| Seizure | 3 | Mar 10, 2020 |
| Senior-Loken syndrome 8 | 2 | May 22, 2024 |
| Severe X-linked myotubular myopathy | 2 | Sep 11, 2023 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 | Nov 17, 2020 |
| Severe early-childhood-onset retinal dystrophy | 3 | Mar 10, 2020 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 4 | Jan 27, 2023 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Nov 9, 2023 |
| Severe myoclonic epilepsy in infancy | 3 | Mar 13, 2024 |
| Short stature | 2 | Jun 1, 2020 |
| Shwachman-Diamond syndrome 1 | 3 | May 3, 2023 |
| Sjögren-Larsson syndrome | 3 | May 4, 2022 |
| Skraban-Deardorff syndrome | 1 | Sep 11, 2023 |
| Sotos syndrome | 3 | Sep 11, 2023 |
| Spastic ataxia 2 | 3 | Jan 27, 2023 |
| Spastic ataxia 5 | 1 | Jan 27, 2023 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 2 | May 3, 2023 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | May 3, 2023 |
| Spermatogenic Failure | 2 | Mar 10, 2020 |
| Sphingolipid activator protein 1 deficiency | 1 | Oct 3, 2019 |
| Sphingomyelin/cholesterol lipidosis | 54 | Mar 9, 2020 |
| Spinocerebellar ataxia type 21 | 1 | Jan 27, 2023 |
| Spinocerebellar ataxia type 26 | 1 | Jan 27, 2023 |
| Spinocerebellar ataxia type 29 | 1 | Oct 3, 2019 |
| Spinocerebellar ataxia type 4 | 1 | May 22, 2024 |
| Sponastrime dysplasia | 1 | May 3, 2023 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 2 | Jan 27, 2023 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Nov 21, 2018 |
| Spondylometaphyseal dysplasia | 1 | May 22, 2024 |
| Spongy degeneration of central nervous system | 2 | Oct 3, 2019 |
| Stickler syndrome type 2 | 1 | Dec 21, 2023 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 | Jan 27, 2023 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Oct 3, 2019 |
| Syndromic X-linked intellectual disability Najm type | 7 | Mar 28, 2024 |
| Syndromic X-linked intellectual disability Nascimento type | 1 | Sep 11, 2023 |
| Syndromic intellectual disability | 3 | May 29, 2020 |
| Syndromic microphthalmia type 5 | 1 | Jan 27, 2023 |
| TCF12-related craniosynostosis | 1 | Jan 27, 2023 |
| TPM3-related myopathy | 1 | Jan 27, 2023 |
| TRPV4-related bone disorder | 1 | Mar 13, 2024 |
| TTN-related myopathy | 7 | May 3, 2023 |
| TUBB3-related tubulinopathy | 3 | Mar 13, 2024 |
| TWIST1-related craniosynostosis | 1 | Mar 13, 2024 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | May 3, 2023 |
| Tay-Sachs disease | 1 | Mar 10, 2020 |
| Temtamy syndrome | 1 | May 4, 2022 |
| Tetralogy of Fallot | 1 | Mar 10, 2020 |
| Townes-Brocks syndrome 1 | 1 | May 29, 2020 |
| Type 2 diabetes mellitus | 5 | Mar 10, 2020 |
| Ullrich congenital muscular dystrophy 1A | 12 | Dec 21, 2023 |
| Ulnar-mammary syndrome | 1 | Dec 21, 2023 |
| Usher syndrome type 1F | 66 | Jan 27, 2023 |
| Usher syndrome type 2A | 4 | Jan 27, 2023 |
| Usher syndrome type 2C | 4 | Mar 10, 2020 |
| Usher syndrome type 3A | 1 | May 4, 2022 |
| Usher syndrome, type 4 | 1 | Jan 27, 2023 |
| VATER association | 1 | May 29, 2020 |
| Van Maldergem syndrome 2 | 3 | May 3, 2023 |
| Vasculitis due to ADA2 deficiency | 2 | May 3, 2023 |
| Ververi-Brady syndrome | 1 | Dec 21, 2023 |
| Vici syndrome | 3 | May 3, 2023 |
| Visceral myopathy 1 | 1 | Jun 27, 2018 |
| Vitamin D-dependent rickets type II with alopecia | 2 | Mar 10, 2020 |
| Walker-Warburg congenital muscular dystrophy | 2 | Nov 17, 2020 |
| Warburg micro syndrome 1 | 4 | Sep 11, 2023 |
| Warburg micro syndrome 2 | 1 | Jan 27, 2023 |
| Weiss-Kruszka syndrome | 5 | Mar 13, 2024 |
| Wieacker-Wolff syndrome | 4 | May 3, 2023 |
| Wieacker-Wolff syndrome (spectrum) | 1 | Jan 27, 2023 |
| Wieacker-Wolff syndrome, female-restricted | 1 | Jan 27, 2023 |
| Wiedemann-Steiner syndrome | 3 | May 3, 2023 |
| Wolfram syndrome 1 | 2 | Nov 9, 2023 |
| X-linked Alport syndrome | 4 | May 4, 2022 |
| X-linked Emery-Dreifuss muscular dystrophy | 1 | Sep 11, 2023 |
| X-linked cerebral adrenoleukodystrophy | 1 | May 4, 2022 |
| X-linked cone-rod dystrophy 3 | 1 | Sep 11, 2023 |
| X-linked intellectual disability | 1 | Mar 10, 2020 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | May 3, 2023 |
| X-linked intellectual disability-short stature-overweight syndrome | 2 | Mar 10, 2020 |
| X-linked myopathy with postural muscle atrophy | 1 | Sep 11, 2023 |
| X-linked recessive nephrolithiasis with renal failure | 1 | Oct 3, 2019 |
| X-linked sideroblastic anemia 1 | 1 | May 3, 2023 |
| X-linked sideroblastic anemia with ataxia | 1 | May 3, 2023 |
| ZTTK syndrome | 3 | May 3, 2023 |
| beta Thalassemia | 1 | May 3, 2023 |
| not specified | 25 | Mar 9, 2020 |
| skeletal contractures | 1 | May 29, 2020 |
